ClinGen Allele Registry
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Canonical Allele Identifier:
PA658708435
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495747
ClinVar RCV Id:
RCV000587153
RCV002404592
RCV002491163
RCV001853975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro258Leu
CA369862549
NM_172056.2:c.773C>T