Canonical Allele Identifier: PA645503955
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 437453
ClinVar RCV Id: RCV000504182 RCV002524354
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Tyr519Cys
CA379376203
NM_000543.5:c.1556A>G