ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA913194875
Gene: KCNJ11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000754813
ClinVar Variation:
617651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Leu233Phe
CA379771407
NM_000525.4:c.697C>T