ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267420
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000083070
RCV000567641
RCV002513859
ClinVar Variation:
96949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1780Arg
CA003509
NM_007294.4:c.5339T>G