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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:
PA198737
Gene: DSG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2447014
ClinVar RCV Id:
RCV003176282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001934.2:p.Thr128Ile
CA022077
NM_001943.5:c.383C>T