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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:
PA2741888093
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2821122
ClinVar RCV Id:
RCV003723108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly1080Ser
CA384540192
NM_001844.5:c.3238G>A