Canonical Allele Identifier: PA2828488088
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 6170
ClinVar RCV Id: RCV000006545 RCV000779835 RCV001835622 RCV002243624 RCV002476937 RCV002512833
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358373.1:p.Arg183His
CA118021
NM_001371444.1:c.548G>A