ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060167
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000235874
RCV000572029
RCV000701658
RCV003998916
ClinVar Variation:
246259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val1643Ile
CA10584447
NM_000059.4:c.4927G>A