Canonical Allele Identifier: PA2499280228
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Leu1160Phe
CA1713533
NM_015120.4:c.3480G>T
CA347275737
NM_015120.4:c.3480G>C