ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060241
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000076947
RCV000477598
RCV000567451
RCV000763891
ClinVar Variation:
91430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val1988Ile
CA023425
NM_000059.4:c.5962G>A