ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305162
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67490
ClinVar RCV Id:
RCV000058219
RCV000181916
RCV001203991
RCV001841752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Met1115Val
CA008225
NM_000238.4:c.3343A>G