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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:
PA645433684
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281054
ClinVar RCV Id:
RCV000285371
RCV000377482
RCV000400296
RCV001087885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Arg861Gln
CA10072935
NM_001849.4:c.2582G>A