ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328460
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057887
RCV001588889
RCV001854189
RCV003993785
ClinVar Variation:
67180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ser428Leu
CA004407
NM_172056.2:c.1283C>T