ClinGen Allele Registry
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Canonical Allele Identifier:
PA329410
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058172
RCV000413036
RCV000509284
RCV001841729
RCV003162447
ClinVar Variation:
67445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu615Val
CA007537
NM_172057.3:c.1843C>G