Canonical Allele Identifier: PA2828489320
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 6170
ClinVar RCV Id: RCV000006545 RCV000779835 RCV001835622 RCV002243624 RCV002476937 RCV002512833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358378.1:p.Arg183His
CA118021
NM_001371449.1:c.548G>A