Canonical Allele Identifier: PA2828762771
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Val468Leu
CA347262597
NM_001378454.1:c.1402G>C
CA347262598
NM_001378454.1:c.1402G>T