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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:
PA2827027510
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36017
ClinVar RCV Id:
RCV000029676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305963.1:p.Ile462del
CA004913
NM_001319034.2:c.1384_1386del