ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139673386
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001020092
ClinVar Variation:
823666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser1121Leu
CA387776385
NM_000059.4:c.3362C>T