ClinGen Allele Registry
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Canonical Allele Identifier:
PA329608
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058272
RCV000157261
RCV000198797
RCV002932385
ClinVar Variation:
67543
2051989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly306Arg
CA008981
NM_172056.2:c.916G>C
CA072256
NM_172056.2:c.916G>A