ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573058248
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000220359
RCV001562948
RCV002282058
RCV002518295
ClinVar Variation:
231163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu2080Val
CA10579685
NM_000059.4:c.6238T>G