Canonical Allele Identifier: PA234972
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167712
ClinVar RCV Id: RCV000179324 RCV000806406 RCV001527430 RCV001248980 RCV001814072
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Arg498His
CA234971
NM_000543.5:c.1493G>A