ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916064372
Gene: KCNH5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758963.1:p.Ile245Val
CA7217603
NM_172375.3:c.733A>G