ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579757221
Gene: KCNQ1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.018451
Score
-0.018451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr312Pro
CA379132968
NM_000218.3:c.934A>C