Canonical Allele Identifier: PA1139699260
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992131
ClinVar RCV Id: RCV001280461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Ile491Leu
CA379375547
NM_001318087.2:c.1471A>C