ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252568
Gene: KCNQ1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val127Met
CA008122
NM_181798.1:c.379G>A