ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059967
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000218601
RCV001853520
ClinVar Variation:
230729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Tyr1749His
CA10579649
NM_000059.4:c.5245T>C