Canonical Allele Identifier: PA658828281
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Gln1086His
CA1713489
NM_015120.4:c.3258G>T
CA1713490
NM_015120.4:c.3258G>C