ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060282
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438960
ClinVar RCV Id:
RCV000508368
RCV000816970
RCV002438230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val917Ile
CA387773636
NM_000059.4:c.2749G>A