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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:
PA2826138410
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134214
ClinVar RCV Id:
RCV000120887
RCV000945936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171554.1:p.Arg299His
CA159156
NM_001178083.2:c.896G>A