Canonical Allele Identifier: PA2825205962
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1472402
ClinVar RCV Id: RCV001975994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.His321Tyr
CA379371396
NM_000543.5:c.961C>T