ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304580
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67161
ClinVar RCV Id:
RCV000057868
RCV000181776
RCV001055822
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro334Leu
CA004159
NM_172056.2:c.1001C>T