Canonical Allele Identifier: PA2828762306
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.His83Gln
CA1712779
NM_001378454.1:c.249C>A
CA347250926
NM_001378454.1:c.249C>G