ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060193
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000530126
RCV000771483
RCV003441925
ClinVar Variation:
462224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val387Ala
CA6940494
NM_000059.4:c.1160T>C