ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057705
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000545774
RCV001805162
RCV002330857
ClinVar Variation:
462339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu1491Pro
CA387781465
NM_000059.4:c.4472T>C