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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:
PA2826434232
Gene: CEP41
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128705
ClinVar RCV Id:
RCV000116677
RCV000514927
RCV001084476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244087.1:p.Cys240Gly
CA152310
NM_001257158.2:c.718T>G