Canonical Allele Identifier: PA245142
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197160
ClinVar RCV Id: RCV000178119 RCV001852206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.His427Leu
CA245141
NM_000543.5:c.1280A>T