Canonical Allele Identifier: PA916069026
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9179
ClinVar RCV Id: RCV000009757 RCV002472926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075012.1:p.Ile116Phe
CA254696
NM_022874.2:c.346A>T