ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218675
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67431
ClinVar RCV Id:
RCV000058157
RCV003996521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala915Val
CA007271
NM_000238.4:c.2744C>T