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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:
PA2825296213
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
845208
ClinVar RCV Id:
RCV001048232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008844.1:p.Arg1476Gln
CA047105
NM_001008844.3:c.4427G>A