ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826441354
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1302936
ClinVar RCV Id:
RCV001756435
RCV002496067
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244273.1:p.Arg69His
CA2109622
NM_001257344.2:c.206G>A