ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329459
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67473
ClinVar RCV Id:
RCV000058201
RCV000157268
RCV000143906
RCV000143907
RCV001841746
RCV002321556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu705Phe
CA008015
NM_172057.3:c.2113C>T