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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:
PA645467307
Gene: DSG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
326483
ClinVar RCV Id:
RCV000265529
RCV000304243
RCV000804791
RCV001188866
RCV002418187
RCV003144213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001934.2:p.His721Arg
CA045031
NM_001943.5:c.2162A>G