ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057465
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438968
ClinVar RCV Id:
RCV000506689
RCV000572549
RCV003645012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.His1003Arg
CA387774719
NM_000059.4:c.3008A>G