ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992507
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55578
ClinVar RCV Id:
RCV000048993
RCV000077623
RCV000195396
RCV000165979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Gln707Arg
CA003594
NM_007298.3:c.2120A>G