ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA092784
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057985
RCV000181818
RCV004019003
ClinVar Variation:
67270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ile593Thr
CA005452
NM_000238.4:c.1778T>C