Canonical Allele Identifier: PA2825288307
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1745083
ClinVar RCV Id: RCV002335775
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.His168Asn
CA5852616
NM_001007593.3:c.502C>A