ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304760
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67251
ClinVar RCV Id:
RCV000057963
RCV000181812
RCV003531953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Gly572Val
CA005271
NM_000238.4:c.1715G>T