ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139764566
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847270
ClinVar RCV Id:
RCV001050784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Lys332Arg
CA369861691
NM_172056.2:c.995A>G