ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057861
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489755
ClinVar RCV Id:
RCV000580856
RCV000816799
RCV004001244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu1114Phe
CA387776312
NM_000059.4:c.3340C>T