ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830340519
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237299
ClinVar RCV Id:
RCV000232149
RCV000987998
RCV001842997
RCV002273994
RCV002487047
RCV002433951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Asp642Asn
CA035595
NM_172057.3:c.1924G>A