ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304632
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67190
ClinVar RCV Id:
RCV000057897
RCV000208345
RCV001324448
RCV001841698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Pro111Leu
CA004511
NM_172057.3:c.332C>T