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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:
PA1139670975
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
840353
ClinVar RCV Id:
RCV001042317
RCV001191189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ile580Met
CA6940538
NM_000059.4:c.1740A>G