Canonical Allele Identifier: PA2580377948
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Lys4140Asn
CA1715574
NM_015120.4:c.12420A>T
CA347275023
NM_015120.4:c.12420A>C