ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328885
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057999
RCV003480050
RCV003531955
ClinVar Variation:
67283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Pro265Ser
CA005568
NM_172057.3:c.793C>T