Canonical Allele Identifier: PA2828490166
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 6171
ClinVar RCV Id: RCV000006546 RCV000034811 RCV000384654 RCV001142702 RCV003472990 RCV004532300
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358382.1:p.Arg17Cys
CA118026
NM_001371453.1:c.49C>T