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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:
PA2827029027
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
862390
ClinVar RCV Id:
RCV001069098
RCV001182055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305963.1:p.Arg1632Trp
CA047094
NM_001319034.2:c.4894C>T