ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689722
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232791
ClinVar RCV Id:
RCV000217032
RCV002519715
RCV003323460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu525Gln
CA10580656
NM_007297.4:c.1573G>C