Canonical Allele Identifier: PA2828126030
Gene: SLC33A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259528
ClinVar RCV Id: RCV000249565 RCV000829242 RCV001517973 RCV001808701 RCV001808700
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350812.1:p.Asp171Gly
CA2677409
NM_001363883.1:c.512A>G