ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305230
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200564
ClinVar RCV Id:
RCV000181936
RCV002516850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro72Ser
CA006286
NM_172056.2:c.214C>T