ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438026
Gene: KCNH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000224297
RCV001375036
ClinVar Variation:
235383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758872.1:p.Leu379Pro
CA10581296
NM_172362.3:c.1136T>C