ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304988
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200444
ClinVar RCV Id:
RCV000015503
RCV000181858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly800Ala
CA006638
NM_172056.2:c.2399G>C