ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829369846
Gene: KCNH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1427888
ClinVar RCV Id:
RCV001946038
RCV004552117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002229.1:p.Val329Ile
CA1379919
NM_002238.4:c.985G>A