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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:
PA2829344746
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1500349
ClinVar RCV Id:
RCV002015577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Ser1001Leu
CA6534932
NM_001844.5:c.3002C>T