Canonical Allele Identifier: PA2828763455
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gln1085His
CA1713489
NM_001378454.1:c.3255G>T
CA1713490
NM_001378454.1:c.3255G>C