ClinGen Allele Registry
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Canonical Allele Identifier:
PA304615
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78070
ClinVar RCV:
RCV000057881
RCV000181786
RCV003531951
ClinVar Variation:
67174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ala422Thr
CA004358
NM_172056.2:c.1264G>A