ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092214
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14443
ClinVar RCV Id:
RCV000015527
RCV000015526
RCV000058156
RCV000204621
RCV000589886
RCV000620709
RCV001841247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala913Val
CA007260
NM_000238.4:c.2738C>T