ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830339424
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000223929
RCV000464070
RCV000617874
RCV001546262
ClinVar Variation:
234996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu262Pro
CA10581151
NM_172057.3:c.785T>C