ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056848
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142814
ClinVar RCV Id:
RCV000132240
RCV000231764
RCV001537260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Gln1683Leu
CA021181
NM_000059.4:c.5048A>T