ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257246
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14429
ClinVar RCV Id:
RCV000015510
RCV000057960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly572Arg
CA005249
NM_172056.2:c.1714G>C