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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:
PA1139713370
Gene: KCNA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943244
ClinVar RCV Id:
RCV001213392
RCV002285457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002225.2:p.Arg276Lys
CA6399723
NM_002234.4:c.827G>A