ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829687464
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000049120
RCV000112781
RCV000129300
RCV000283401
ClinVar Variation:
55689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg205His
CA003849
NM_007297.4:c.614G>A