ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573056995
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
234765
ClinVar RCV:
RCV000221215
RCV001327561
ClinVar Variation:
230662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Glu1250Lys
CA10579588
NM_000059.4:c.3748G>A