ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992443
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000132269
RCV000160007
RCV000461010
RCV001073171
RCV001719903
ClinVar Variation:
142834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Gly697Asp
CA003552
NM_007298.3:c.2090G>A