Canonical Allele Identifier: PA261144
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39513
ClinVar RCV Id: RCV000032709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000335.1:p.Tyr130His
CA261142
NM_000344.4:c.388T>C