Canonical Allele Identifier: PA2829061794
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 245942
ClinVar RCV Id: RCV000235323 RCV000766613 RCV001055347 RCV002379048 RCV002500833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Glu390Lys
CA6053302
NM_001386028.1:c.1168G>A