ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211477
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67163
ClinVar RCV Id:
RCV000057870
RCV000148527
RCV000181777
RCV000619112
RCV000678963
RCV001841694
RCV004549481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro347Ser
CA004184
NM_172056.2:c.1039C>T