ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689216
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54274
ClinVar RCV Id:
RCV000047502
RCV000111633
RCV000132145
RCV000195388
RCV000780972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys456Arg
CA001011
NM_007297.4:c.1367A>G