ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830339687
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
389141
ClinVar RCV Id:
RCV000426599
RCV000466780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Asn318Ser
CA16605272
NM_172057.3:c.953A>G