Canonical Allele Identifier: PA2828126100
Gene: SLC33A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 343874
ClinVar RCV Id: RCV000438416 RCV001088062 RCV001288761 RCV001197214 RCV001848696
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350812.1:p.Gly407Ser
CA2677216
NM_001363883.1:c.1219G>A