ClinGen Allele Registry
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Canonical Allele Identifier:
PA658813574
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000631559
RCV001841813
RCV002331109
RCV004547779
ClinVar Variation:
526910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asp144Val
CA039396
NM_172056.2:c.431A>T