ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305105
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200501
ClinVar RCV Id:
RCV000181895
RCV000540197
RCV001160950
RCV001842833
RCV002433795
RCV002492806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Trp927Leu
CA007429
NM_000238.4:c.2780G>T