Canonical Allele Identifier: PA2573260753
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Gly1480Arg
CA1713709
NM_015120.4:c.4438G>A
CA347278528
NM_015120.4:c.4438G>C