ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579757216
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.641992286
Score
1.641992286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile313Val
CA379132971
NM_000218.3:c.937A>G