Canonical Allele Identifier: PA2828764785
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Asp2213Glu
CA1714101
NM_001378454.1:c.6639C>G
CA347288872
NM_001378454.1:c.6639C>A