ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828472881
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6174
ClinVar RCV Id:
RCV000006550
RCV000521027
RCV000674245
RCV003472991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361014.1:p.Arg183Cys
CA118041
NM_001374085.1:c.547C>T