ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057902
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462295
ClinVar RCV Id:
RCV000540104
RCV000759599
RCV001178550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ile1173Val
CA387777031
NM_000059.4:c.3517A>G