Canonical Allele Identifier: PA2825288769
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225624
ClinVar RCV Id: RCV000211547 RCV003765358
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Leu557Pro
CA10576033
NM_001007593.3:c.1670T>C