ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669237
Gene: BRCA2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000050.3:p.Ser234Ile
NM_000059.4:c.700_701delinsAT