ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573059081
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000044619
RCV000113410
RCV000130265
RCV000483481
RCV000766556
ClinVar Variation:
51828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser1750Phe
CA021849
NM_000059.4:c.5249C>T