Canonical Allele Identifier: PA2825288605
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2992
ClinVar RCV Id: RCV000003126 RCV000192225 RCV000411474 RCV000634570 RCV000723415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.His422Tyr
CA252523
NM_001007593.3:c.1264C>T