ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059121
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000216871
RCV001059265
RCV001284431
ClinVar Variation:
230439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser1817Ala
CA10579655
NM_000059.4:c.5449T>G