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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:
PA2825273970
Gene: EDA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11038
ClinVar RCV Id:
RCV000011785
RCV000154610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005609.1:p.Pro209Leu
CA181048
NM_001005609.2:c.626C>T