ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA304638
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200340
ClinVar RCV Id:
RCV000181790
RCV003335180
RCV003532021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg472Pro
CA004589
NM_000238.4:c.1415G>C