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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:
PA2825455018
Gene: ALG9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3749
ClinVar RCV Id:
RCV000003947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001071159.1:p.Tyr116Cys
CA252862
NM_001077691.2:c.347A>G