ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211495
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67423
ClinVar RCV Id:
RCV000058148
RCV000148534
RCV000210414
RCV000438782
RCV001193784
RCV001841714
RCV002426617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg547His
CA007095
NM_172057.3:c.1640G>A