ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573055676
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000167216
RCV001850364
RCV002267922
ClinVar Variation:
187483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ala2054Thr
CA023706
NM_000059.4:c.6160G>A