ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304859
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058072
RCV000181833
RCV000468503
RCV000621327
RCV000851290
ClinVar Variation:
67352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ser320Leu
CA006139
NM_172057.3:c.959C>T