Canonical Allele Identifier: PA2826979141
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198092
ClinVar RCV Id: RCV000179323 RCV000259165 RCV001084948 RCV001107857
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Pro226Leu
CA246587
NM_001318088.2:c.677C>T