Canonical Allele Identifier: PA094653
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9179
ClinVar RCV Id: RCV000009757 RCV002472926
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000335.1:p.Ile116Phe
CA254696
NM_000344.4:c.346A>T