ClinGen Allele Registry
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Canonical Allele Identifier:
PA328834
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057987
RCV001205698
RCV003162441
ClinVar Variation:
67271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly594Asp
CA005466
NM_172056.2:c.1781G>A