Canonical Allele Identifier: PA658825321
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 552493
ClinVar RCV Id: RCV000667765

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Leu49_Ser50del
CA597438134
NM_000543.5:c.145_150del