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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:
PA2825401645
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2107087
ClinVar RCV Id:
RCV003026801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035897.1:p.Leu46Val
CA395346566
NM_001042432.2:c.136C>G