ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056104
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438987
ClinVar RCV Id:
RCV000508199
RCV000554468
RCV001188185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Asn1730Ser
CA6940853
NM_000059.4:c.5189A>G