Canonical Allele Identifier: PA2580394693
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Trp1018Arg
CA50392119
NM_015120.4:c.3052T>A
CA347273592
NM_015120.4:c.3052T>C