ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328892
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67284
ClinVar RCV Id:
RCV000058000
RCV000631723
RCV000735254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Pro605Leu
CA005574
NM_000238.4:c.1814C>T