Canonical Allele Identifier: PA2825288634
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1173975

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Arg446Lys
CA379374608
NM_001007593.3:c.1337G>A