×
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:
PA916062506
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373573
ClinVar RCV Id:
RCV000412840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Asp259Gly
CA16043114
NM_172109.3:c.776A>G