Canonical Allele Identifier: PA2573261581
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Thr2787Ser
CA1714455
NM_015120.4:c.8360C>G
CA347268436
NM_015120.4:c.8359A>T