Canonical Allele Identifier: PA2573091475
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Val38Leu
CA1712739
NM_015120.4:c.112G>C
CA347250625
NM_015120.4:c.112G>T