ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573056440
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165854
RCV000236825
RCV000637498
RCV003995460
ClinVar Variation:
186288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Asp1709Ala
CA021338
NM_000059.4:c.5126A>C