Canonical Allele Identifier: PA2825288218
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499998
ClinVar RCV Id: RCV000597540

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Ser50Pro
CA379367531
NM_001007593.3:c.148T>C