ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139679057
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52123
ClinVar RCV Id:
RCV000113604
RCV000709327
RCV003157314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.His2178Asn
CA024142
NM_000059.4:c.6532C>A