ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139671106
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431362
ClinVar RCV Id:
RCV000496580
RCV001524384
RCV003645005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Glu612Lys
CA387766181
NM_000059.4:c.1834G>A