ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448081
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000214652
RCV000781022
RCV001218719
ClinVar Variation:
232628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu143Gln
CA10580702
NM_007294.4:c.427G>C