ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305488
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67224
ClinVar RCV Id:
RCV000057933
RCV000182049
RCV001320245
RCV002399421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ser55Leu
CA004951
NM_172056.2:c.164C>T