Canonical Allele Identifier: PA916068994
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9168
ClinVar RCV Id: RCV000009739 RCV000009740 RCV000517884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075012.1:p.Ala2Gly
CA254681
NM_022874.2:c.5C>G