ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825099474
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
918904
ClinVar RCV Id:
RCV001842662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala1116Thr
CA369851599
NM_000238.4:c.3346G>A