ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304843
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003532485
ClinVar Variation:
2768610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ile639Asn
CA006003
NM_172056.2:c.1916T>A