ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304909
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67374
ClinVar RCV Id:
RCV000058094
RCV000181842
RCV000196406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ser735Leu
CA006346
NM_172056.2:c.2204C>T