Canonical Allele Identifier: PA658804861
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496822
ClinVar RCV Id: RCV000594397 RCV003767346 RCV003992340
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro373Ser
CA379372866
NM_000543.5:c.1117C>T