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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:
PA1139720325
Gene: DSG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
942861
ClinVar RCV Id:
RCV001212936
RCV002356909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001934.2:p.Gly129Cys
CA402131803
NM_001943.5:c.385G>T