ClinGen Allele Registry
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Canonical Allele Identifier:
PA2742021042
Gene: KCNH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758872.1:p.Leu516Ile
CA344874419
NM_172362.3:c.1546C>A