ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828489550
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6167
ClinVar RCV Id:
RCV000006542
RCV000519547
RCV000983982
RCV002476936
RCV003472987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358379.1:p.Ser78Gly
CA118004
NM_001371450.1:c.232A>G