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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:
PA2825274075
Gene: EDA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426389
ClinVar RCV Id:
RCV000489664
RCV003479140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005609.1:p.Tyr309His
CA413449247
NM_001005609.2:c.925T>C