ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257260
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14435
ClinVar RCV Id:
RCV000148536
RCV001659699
RCV000015516
RCV000058100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg412Gln
CA006389
NM_172057.3:c.1235G>A