Canonical Allele Identifier: PA221145
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93313
ClinVar RCV Id: RCV000178118 RCV000984310 RCV000984311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Cys433Trp
CA221144
NM_000543.5:c.1299T>G