Canonical Allele Identifier: PA2829999038
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_075012.1:p.Tyr240Cys
CA254677
NM_022874.2:c.719A>G