ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056719
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000476241
RCV000484479
RCV001192346
RCV002466506
ClinVar Variation:
409456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Asp1199Asn
CA16614292
NM_000059.4:c.3595G>A