Canonical Allele Identifier: PA2829061820
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128532
ClinVar RCV Id: RCV000116504 RCV000174173 RCV000664139 RCV001082147 RCV000300263 RCV001847675 RCV000357438 RCV002426660 RCV002498501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Leu427Pro
CA200862
NM_001386028.1:c.1280T>C