Canonical Allele Identifier: PA1139733765
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Phe1392Leu
CA1713651
NM_015120.4:c.4176C>A
CA347277620
NM_015120.4:c.4174T>C
CA347277626
NM_015120.4:c.4176C>G