ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829691550
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131341
RCV001222005
RCV001284391
RCV001328387
ClinVar Variation:
142303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu833Gln
CA001731
NM_007297.4:c.2497G>C