Canonical Allele Identifier: PA152058
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128533
ClinVar RCV Id: RCV000116505 RCV000320427 RCV000377345 RCV001707526 RCV001553921 RCV000860294 RCV001553920 RCV001553922 RCV001847676 RCV002463437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Lys268Arg
CA152055
NM_001130702.2:c.803A>G