ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304879
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058079
RCV000181836
RCV000546253
RCV000624294
ClinVar Variation:
67359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Leu693Pro
CA006194
NM_172056.2:c.2078T>C