ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305163
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67490
ClinVar RCV Id:
RCV000058219
RCV000181916
RCV001203991
RCV001841752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Met775Val
CA008225
NM_172057.3:c.2323A>G