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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:
PA2580112208
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2161032
ClinVar RCV Id:
RCV003087842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ala210Gly
CA394478921
NM_000243.3:c.629C>G