Canonical Allele Identifier: PA658804854
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502573
ClinVar RCV Id: RCV000596004 RCV001037515
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro184Leu
CA5852623
NM_000543.5:c.551C>T