Canonical Allele Identifier: PA246588
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198092
ClinVar RCV Id: RCV000179323 RCV000259165 RCV001084948 RCV001107857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro533Leu
CA246587
NM_000543.5:c.1598C>T