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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:
CA2407514276
Gene: SAMM50
HGNC
NCBI
Linked Data
dbSNP Id:
rs2050379236
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998544_43998547dup , CM000684.2:g.43998544_43998547dup
GRCh38
NC_000022.10:g.44394424_44394427dup , CM000684.1:g.44394424_44394427dup
GRCh37
NC_000022.9:g.42725757_42725760dup
NCBI36
NG_029743.1:g.4334_4337dup
NG_029743.2:g.4334_4337dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465768.1:n.79+8138_79+8141dup
Search 100 bp 5'
Search 100 bp 3'