Canonical Allele Identifier: PA2825288728
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506220
ClinVar RCV Id: RCV003236451
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Ile519Leu
CA379376213
NM_001007593.3:c.1555A>C