Canonical Allele Identifier: PA658825320
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 551360
ClinVar RCV Id: RCV000666400

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Ala40Pro
CA379367284
NM_000543.5:c.118G>C