Allele Registry

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.

Canonical Allele Identifier: PA913196394

Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 634934

ClinVar RCV Id: RCV000785799

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Gly275Asp	CA360097300 NM_000344.4:c.824G>A