ClinGen Allele Registry
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Canonical Allele Identifier:
PA123957
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asn588Lys
CA005420
NM_172056.2:c.1764C>A
CA005426
NM_172056.2:c.1764C>G