Canonical Allele Identifier: PA916018913
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9166
ClinVar RCV Id: RCV000009737 RCV000518253 RCV002470706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001284644.1:p.Tyr272Cys
CA254677
NM_001297715.1:c.815A>G