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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA753479402
Gene: SAMM50
HGNC
NCBI
Linked Data
dbSNP Id:
rs1356900335
MyVariant Identifiers:
chr22:g.44394435_44394436insAAGACCACAAAAGACCACATC (hg19)
chr22:g.43998555_43998556insAAGACCACAAAAGACCACATC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998556_43998557insAGACCACAAAAGACCACATCA , CM000684.2:g.43998556_43998557insAGACCACAAAAGACCACATCA
GRCh38
NC_000022.10:g.44394436_44394437insAGACCACAAAAGACCACATCA , CM000684.1:g.44394436_44394437insAGACCACAAAAGACCACATCA
GRCh37
NC_000022.9:g.42725769_42725770insAGACCACAAAAGACCACATCA
NCBI36
NG_029743.1:g.4346_4347insAGACCACAAAAGACCACATCA
NG_029743.2:g.4346_4347insAGACCACAAAAGACCACATCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465768.1:n.79+8150_79+8151insAGACCACAAAAGACCACATCA
Search 100 bp 5'
Search 100 bp 3'