ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829705258
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000077563
RCV000218513
RCV000240719
RCV000417371
RCV001506260
RCV002250543
ClinVar Variation:
55119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1389Asn
CA002665
NM_007300.4:c.4166G>A