ClinGen Allele Registry
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Canonical Allele Identifier:
PA304687
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000618149
RCV000678934
RCV000699875
RCV002223807
RCV003591698
ClinVar Variation:
200354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asp509Asn
CA004769
NM_172056.2:c.1525G>A