Canonical Allele Identifier: PA2825288659
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_001007594.2:p.Arg475Trp
CA221147
NM_001007593.3:c.1423C>T