ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328300
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057719
ClinVar Variation:
67092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Asp202His
CA007727
NM_000218.3:c.604G>C