ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194842
Gene: BRCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.2:p.His543Tyr
CA012679
NM_000059.3:c.1627C>T