ClinGen Allele Registry
Allele Registry
Pathogenicity Calculator
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LDH info
Canonical Allele Identifier:
PA111565
Gene: KCNQ1
HGNC
NCBI
Identifiers and link-outs to other resources
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000209.2:p.Thr311Ile
NM_000218.2:c.932C>T