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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:
PA2826581394
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
982483
ClinVar RCV Id:
RCV001262076
RCV001880033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265067.1:p.Leu117Arg
CA374982466
NM_001278138.2:c.350T>G