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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:
PA2829530344
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21801
ClinVar RCV Id:
RCV000678094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Asn258Ser
CA342531
NM_004518.5:c.773A>G