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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:
PA2830323432
Gene: PMP22
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234605
ClinVar RCV Id:
RCV000213954
RCV000790160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_696996.1:p.Ser149Arg