Canonical Allele Identifier: PA2830390070
Gene: KCNQ1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_861463.1:p.Pro193Leu
CA379133003
NM_181798.1:c.578C>T
CA645569440
NM_181798.1:c.578_579delinsTT