Canonical Allele Identifier: PA2829061786
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476819
ClinVar RCV Id: RCV000533481 RCV001508668 RCV002377176 RCV002483492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Gly383Arg
CA6053318
NM_001386028.1:c.1147G>A
CA380956543
NM_001386028.1:c.1147G>C