Canonical Allele Identifier: PA2828765407
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr2786Ser
CA1714455
NM_001378454.1:c.8357C>G
CA347268436
NM_001378454.1:c.8356A>T