ClinGen Allele Registry
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Canonical Allele Identifier:
PA270974
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157662
ClinVar RCV Id:
RCV000144957
RCV001234187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asp219Val
CA008651
NM_172056.2:c.656A>T