ClinGen Allele Registry
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Canonical Allele Identifier:
PA304813
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78217
ClinVar RCV:
RCV000058040
RCV000181824
RCV000621397
ClinVar Variation:
67321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Pro292Ser
CA005893
NM_172057.3:c.874C>T