Canonical Allele Identifier: PA2825288421
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93320
ClinVar RCV Id: RCV000175626 RCV000414126 RCV000821795 RCV000984226 RCV001248868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Asp252His
CA266816
NM_001007593.3:c.754G>C