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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:
PA2825274076
Gene: EDA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373096
ClinVar RCV Id:
RCV000414008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005609.1:p.Tyr309Ser
CA16043303
NM_001005609.2:c.926A>C