Canonical Allele Identifier: PA2828765454
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Cys2830Ser
CA50378678
NM_001378454.1:c.8488T>A
CA347269107
NM_001378454.1:c.8489G>C