ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059761
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479283
ClinVar RCV Id:
RCV000573175
RCV000637448
RCV003478202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr1302Ile
CA247506143
NM_000059.4:c.3905C>T