ClinGen Allele Registry
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Canonical Allele Identifier:
PA304663
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78104
ClinVar RCV:
RCV000057917
RCV000181794
RCV000467289
RCV000618688
ClinVar Variation:
67208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asp501Asn
CA004728
NM_172056.2:c.1501G>A