ClinGen Allele Registry
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Canonical Allele Identifier:
PA305438
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Phe300Leu
CA006010
NM_172057.3:c.898T>C
CA006030
NM_172057.3:c.900C>A
CA16618407
NM_172057.3:c.900C>G