ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304754
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67248
ClinVar RCV Id:
RCV000057959
RCV000181811
RCV000619615
RCV000631548
RCV000678923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Gly232Ser
CA005241
NM_172057.3:c.694G>A