Canonical Allele Identifier: PA916022247
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93315
ClinVar RCV Id: RCV000169170 RCV000178791 RCV000192226 RCV000688387 RCV000781863 RCV003925040
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Arg476Trp
CA221147
NM_001318087.2:c.1426C>T