ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304814
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67321
ClinVar RCV Id:
RCV000058040
RCV000181824
RCV000621397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro632Ser
CA005893
NM_172056.2:c.1894C>T