ClinGen Allele Registry
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Canonical Allele Identifier:
PA915997675
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000637400
RCV000773027
RCV001354965
ClinVar Variation:
531240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys739Gln
CA10597568
NM_007300.4:c.2215A>C