ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573058189
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000130942
RCV000198002
RCV000781107
ClinVar Variation:
142108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys1789Glu
CA022152
NM_000059.4:c.5365A>G