Canonical Allele Identifier: PA2741859631
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582294
ClinVar RCV Id: RCV003333260
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Asn494Lys
CA379375584
NM_001318087.2:c.1482T>A
CA379375586
NM_001318087.2:c.1482T>G