×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830347091
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2433027
ClinVar RCV Id:
RCV003133812
RCV004538900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Arg510Lys
CA409645150
NM_172108.3:c.1529G>A