ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257223
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14421
ClinVar RCV Id:
RCV000015502
RCV000057902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asn470Asp
CA004572
NM_172056.2:c.1408A>G