ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304878
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67359
ClinVar RCV Id:
RCV000058079
RCV000181836
RCV000546253
RCV000624294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Leu693Pro
CA006194
NM_000238.4:c.2078T>C