Canonical Allele Identifier: PA2825089660
Gene: KCNQ1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000209.2:p.Val172Leu
CA379129862
NM_000218.3:c.514G>C
CA379129863
NM_000218.3:c.514G>T