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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:
PA2741808924
Gene: COMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2649592
ClinVar RCV Id:
RCV003415155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000086.2:p.Ile375Thr
CA404887735
NM_000095.3:c.1124T>C