Canonical Allele Identifier: PA2828764623
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gln2061His
CA1714023
NM_001378454.1:c.6183G>C
CA347285208
NM_001378454.1:c.6183G>T