ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573306124
Gene: KCNH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1493344
ClinVar RCV Id:
RCV001984299
RCV002254215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758872.1:p.Arg357Trp
CA344874185
NM_172362.3:c.1069C>T