ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA192679
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165177
RCV000258240
RCV000496554
RCV001053345
ClinVar Variation:
185705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg71Met
CA001421
NM_007294.4:c.212G>T