Canonical Allele Identifier: PA123956
Gene: KCNH2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742054.1:p.Asn248Lys
CA005420
NM_172057.3:c.744C>A
CA005426
NM_172057.3:c.744C>G