Canonical Allele Identifier: PA305600
Gene: KCNQ1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Val127Leu
CA008134
NM_181798.1:c.379G>C
CA008142
NM_181798.1:c.379G>T