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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:
PA2580535603
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1722230
ClinVar RCV Id:
RCV002302383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Arg155Gly
CA409655279
NM_172109.3:c.463C>G