ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829705171
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112151
RCV000203628
RCV000223406
RCV000590264
ClinVar Variation:
54614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Leu87Val
CA001710
NM_007298.3:c.259T>G