ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000525
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000259337
RCV000637752
RCV001021647
ClinVar Variation:
279705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1337His
CA10593943
NM_007300.4:c.4009G>C