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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:
PA645400380
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237022
ClinVar RCV Id:
RCV000226902
RCV000664173
RCV000454429
RCV000488732
RCV001166478
RCV002399808
RCV002225526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Gly545Ser
CA5252712
NM_001114753.3:c.1633G>A