ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573058164
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000474437
RCV000772754
RCV001778966
ClinVar Variation:
409550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys1729Thr
CA6940852
NM_000059.4:c.5186A>C