ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573058208
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51248
ClinVar RCV Id:
RCV000043949
RCV000113019
RCV000131476
RCV000590581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu712Pro
CA014418
NM_000059.4:c.2135T>C