Canonical Allele Identifier: PA2828488089
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 6171
ClinVar RCV Id: RCV000006546 RCV000034811 RCV000384654 RCV001142702 RCV003472990 RCV004532300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358373.1:p.Arg184Cys
CA118026
NM_001371444.1:c.550C>T