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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:
PA2825019236
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2451476
ClinVar RCV Id:
RCV003182492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys1631Arg
CA387783526
NM_000059.4:c.4892A>G