ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275164
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058017
RCV000845307
RCV001208803
RCV001781395
ClinVar Variation:
67299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Ser281Asn
CA005703
NM_001204798.2:c.842G>A