ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573306609
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1511646
ClinVar RCV Id:
RCV002043381
RCV002386905
RCV002471218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ala244Gly
CA040295
NM_172056.2:c.731C>G