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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:
PA2830123142
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198360
ClinVar RCV Id:
RCV000179660
RCV000271060
RCV000357636
RCV000680455
RCV001262338
RCV004539684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Arg1617His
CA246966
NM_080630.4:c.4850G>A