ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059383
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000552237
RCV003157658
ClinVar Variation:
462306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr1251Ile
CA387778191
NM_000059.4:c.3752C>T