Canonical Allele Identifier: PA2573078576
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305178
ClinVar RCV Id: RCV000335926 RCV000399378 RCV000866662 RCV001089069 RCV002365352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Gly275Arg
CA6053444
NM_001386028.1:c.823G>A
CA380962073
NM_001386028.1:c.823G>C