ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024069
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_001305765.1:p.Arg64Cys
CA118026
NM_001318836.2:c.190C>T