ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059849
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495463
ClinVar RCV Id:
RCV000588421
RCV001022215
RCV002530889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr1430Ala
CA387780645
NM_000059.4:c.4288A>G