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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:
PA2827029029
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_001305963.1:p.Arg1632Gln
CA047105
NM_001319034.2:c.4895G>A