ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA257245
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14429
ClinVar RCV Id:
RCV000015510
RCV000057960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Gly232Arg
CA005249
NM_172057.3:c.694G>C