Canonical Allele Identifier: PA2826979053
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2996
ClinVar RCV Id: RCV000003131 RCV001379382
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Tyr162Ser
CA252530
NM_001318088.2:c.485A>C