Canonical Allele Identifier: PA2828764832
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Met2272Ile
CA1714129
NM_001378454.1:c.6816G>A
CA347289504
NM_001378454.1:c.6816G>C
CA347289506
NM_001378454.1:c.6816G>T