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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057064
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441318
ClinVar RCV Id:
RCV000509831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Glu2210Gln
CA387790258
NM_000059.4:c.6628G>C