Canonical Allele Identifier: PA177871
Gene: SCNN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001029.1:p.Thr663Ala
CA177870
NM_001038.6:c.1987A>G
CA3054215742
NM_001038.6:c.1986_1987delinsTG