ClinGen Allele Registry
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Canonical Allele Identifier:
PA144972
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78277
ClinVar RCV:
RCV000058102
RCV001031014
RCV002514287
ClinVar Variation:
67381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Met416Val
CA006412
NM_172057.3:c.1246A>G