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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:
PA645433445
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340372
ClinVar RCV Id:
RCV000346561
RCV000387074
RCV000808997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Asp712Tyr
CA10653709
NM_001849.4:c.2134G>T