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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:
PA2826394312
Gene: PRRT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65757
ClinVar RCV Id:
RCV000055990
RCV000791448
RCV001332952
RCV001719806
RCV002354247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243371.1:p.Pro216Arg
CA317033
NM_001256442.2:c.647C>G