ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215097
Gene: KCNH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000185592
ClinVar Variation:
183416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758872.1:p.Leu379Val
CA215095
NM_172362.3:c.1135C>G