ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693945
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279705
ClinVar RCV Id:
RCV000259337
RCV000637752
RCV001021647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp1290His
CA10593943
NM_007297.4:c.3868G>C