Canonical Allele Identifier: PA2499248011
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1173971
ClinVar RCV Id: RCV001527423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Leu64Pro
CA379372837
NM_001318088.2:c.191T>C