ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304925
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67379
ClinVar RCV Id:
RCV000058099
RCV000181845
RCV000621587
RCV000631584
RCV001841706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg412Trp
CA006383
NM_172057.3:c.1234C>T