ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139679948
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52242
ClinVar RCV Id:
RCV000045114
RCV000113685
RCV000219635
RCV000759653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Arg2336Leu
CA024720
NM_000059.4:c.7007G>T