Canonical Allele Identifier: PA2825206116
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1173976
ClinVar RCV Id: RCV001527429
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro477Thr
CA379375285
NM_000543.5:c.1429C>A