ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329022
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058033
RCV000413164
RCV000475088
ClinVar Variation:
67314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asn629Thr
CA005846
NM_172056.2:c.1886A>C