Canonical Allele Identifier: PA2580377127
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Lys3443Asn
CA1714966
NM_015120.4:c.10329G>C
CA347278222
NM_015120.4:c.10329G>T