ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693992
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55081
ClinVar RCV Id:
RCV000112231
RCV001191518
RCV002247444
RCV003644885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg1300Lys
CA002579
NM_007297.4:c.3899G>A