ClinGen Allele Registry
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Canonical Allele Identifier:
PA915994784
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111781
RCV000763401
RCV001378528
RCV002433536
ClinVar Variation:
54131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr37Lys
CA000742
NM_007300.4:c.110C>A