ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139673348
Gene: BRCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr1116Ile
CA387776332
NM_000059.4:c.3347C>T