ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059848
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231592
ClinVar RCV Id:
RCV000213473
RCV000818006
RCV003477733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr1430Ile
CA10579607
NM_000059.4:c.4289C>T