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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:
PA2827876072
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421257
ClinVar RCV Id:
RCV000483765
RCV000989273
RCV001266187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341478.1:p.Arg506His
CA16619906
NM_001354549.2:c.1517G>A