ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215046
Gene: KCNH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149910
RCV000185590
RCV000677640
RCV001781489
ClinVar Variation:
162520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002229.1:p.Ile467Val
CA215045
NM_002238.4:c.1399A>G