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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:
PA658814222
Gene: KCNA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
537308
ClinVar RCV Id:
RCV000646128
RCV001584489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002225.2:p.Arg597Gln
CA6399950
NM_002234.4:c.1790G>A