ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057416
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000236609
RCV000531040
RCV003157491
ClinVar Variation:
246172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Gly2140Ser
CA10584449
NM_000059.4:c.6418G>A