Canonical Allele Identifier: PA2828169459
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93315
ClinVar RCV Id: RCV000169170 RCV000178791 RCV000192226 RCV000688387 RCV000781863 RCV003925040
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Arg432Trp
CA221147
NM_001365135.1:c.1294C>T