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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:
PA2826394774
Gene: PRRT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
857864
ClinVar RCV Id:
RCV001063628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243372.1:p.Glu225Ala
CA395479243
NM_001256443.2:c.674A>C