Canonical Allele Identifier: PA2828763390
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Trp1017Arg
CA50392119
NM_001378454.1:c.3049T>A
CA347273592
NM_001378454.1:c.3049T>C