ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275117
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057999
RCV003480050
RCV003531955
ClinVar Variation:
67283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Pro265Ser
CA005568
NM_001204798.2:c.793C>T