ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA215113
Gene: KCNH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000190322
ClinVar Variation:
183419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758872.1:p.Ser352Tyr
CA215111
NM_172362.3:c.1055C>A