Canonical Allele Identifier: PA2825288553
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496822
ClinVar RCV Id: RCV000594397 RCV003767346 RCV003992340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Pro372Ser
CA379372866
NM_001007593.3:c.1114C>T