ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056938
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000588009
RCV001853970
RCV003157718
ClinVar Variation:
495474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Glu1912Lys
CA387786929
NM_000059.4:c.5734G>A