ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060075
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51404
ClinVar RCV Id:
RCV000113139
RCV001366576
RCV003156757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val1048Ile
CA017293
NM_000059.4:c.3142G>A