ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218748
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67509
ClinVar RCV Id:
RCV000058238
RCV000157257
RCV000181761
RCV000199086
RCV000617719
RCV001196177
RCV002222158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg176Trp
CA008553
NM_172056.2:c.526C>T