ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328718
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67243
ClinVar RCV Id:
RCV000057954
RCV000689953
ClinVar Variation Id:
67244
ClinVar RCV Id:
RCV000057955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Trp568Cys
CA005198
NM_000238.4:c.1704G>C
CA005206
NM_000238.4:c.1704G>T