ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139679166
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431193
ClinVar RCV Id:
RCV000496859
RCV003157595
RCV003483641
RCV003155216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys2188Glu
CA387789838
NM_000059.4:c.6562A>G