ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329038
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058037
RCV002470745
RCV002513757
ClinVar Variation:
67318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Val630Leu
CA005870
NM_172056.2:c.1888G>C