ClinGen Allele Registry
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Canonical Allele Identifier:
PA328981
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78200
ClinVar RCV:
RCV000058022
RCV000240640
RCV001545650
ClinVar Variation:
67304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly626Ser
CA005743
NM_172056.2:c.1876G>A