Canonical Allele Identifier: PA916022261
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 754253
ClinVar RCV Id: RCV000931568

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Ser13Leu
CA5852726
NM_001318088.2:c.38C>T