ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139678412
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000415863
RCV000455182
RCV000464688
RCV000487865
RCV000568895
ClinVar Variation:
374724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr2088Ile
CA6940940
NM_000059.4:c.6263C>T