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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:
PA916027063
Gene: ALG13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39775
ClinVar RCV Id:
RCV000032994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311219.1:p.Lys96Glu
CA334441456
NM_001324290.2:c.286A>G