ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825098562
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1374457
ClinVar RCV Id:
RCV001877837
RCV002449514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala285Val
CA169081199
NM_000238.4:c.854C>T