ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139675557
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188428
ClinVar RCV Id:
RCV000220621
RCV001850380
RCV003736616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ile1633Thr
CA020977
NM_000059.4:c.4898T>C