ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092415
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14436
ClinVar RCV Id:
RCV000015517
RCV000057981
ClinVar Variation Id:
14437
ClinVar RCV Id:
RCV000015518
RCV000057980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Asn588Lys
CA005420
NM_000238.4:c.1764C>A
CA005426
NM_000238.4:c.1764C>G