ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215096
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_002229.1:p.Leu352Val
CA215095
NM_002238.4:c.1054C>G