ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060005
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482975
ClinVar RCV Id:
RCV000570270
RCV000807789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr2169Ile
CA387789560
NM_000059.4:c.6506C>T