Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828489632

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_001358379.1:p.Arg184Cys	CA118026 NM_001371450.1:c.550C>T