ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092492
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67458
ClinVar RCV Id:
RCV000058185
RCV000181903
RCV001248786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Asn996Ile
CA007728
NM_000238.4:c.2987A>T