ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328931
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67292
ClinVar RCV Id:
RCV000058009
RCV000244892
RCV000223761
RCV000527495
RCV001196417
RCV001258357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Thr273Met
CA005647
NM_172057.3:c.818C>T