ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328826
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057984
RCV000557658
ClinVar Variation:
67269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ile253Lys
CA005445
NM_172057.3:c.758T>A