ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827021480
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6166
ClinVar RCV Id:
RCV000006541
RCV001851699
RCV003472986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305765.1:p.Val233Met
CA117999
NM_001318836.2:c.697G>A