ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697362
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000637721
RCV001072554
RCV002334088
RCV003478362
ClinVar Variation:
531399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.His1699Asp
CA10591069
NM_007297.4:c.5095C>G