ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580127349
Gene: KCNJ11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Ala346Val
CA379769374
NM_000525.4:c.1037C>T