ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808510
Gene: KCNH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000636271
ClinVar Variation:
530414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647479.2:p.Ser943Leu
CA7217178
NM_139318.5:c.2828C>T