×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580509545
Gene: PRRT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2046262
ClinVar RCV Id:
RCV002913568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660282.2:p.Glu194Ala
CA395479001
NM_145239.3:c.581A>C