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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:
CA2407514278
Gene: SAMM50
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998549_43998552delinsTTCA , CM000684.2:g.43998549_43998552delinsTTCA
GRCh38
NC_000022.10:g.44394429_44394432delinsTTCA , CM000684.1:g.44394429_44394432delinsTTCA
GRCh37
NC_000022.9:g.42725762_42725765delinsTTCA
NCBI36
NG_029743.1:g.4339_4342delinsTTCA
NG_029743.2:g.4339_4342delinsTTCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000465768.1:n.79+8143_79+8146delinsTTCA
Search 100 bp 5'
Search 100 bp 3'