Canonical Allele Identifier: PA2828763818
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Phe1391Leu
CA1713651
NM_001378454.1:c.4173C>A
CA347277620
NM_001378454.1:c.4171T>C
CA347277626
NM_001378454.1:c.4173C>G