ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304714
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67225
ClinVar RCV Id:
RCV000057934
RCV000208055
RCV000248595
RCV000223726
RCV000543570
RCV003591658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu212Ser
CA004960
NM_172057.3:c.635T>C