Canonical Allele Identifier: PA2580394228
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.His84Gln
CA1712779
NM_015120.4:c.252C>A
CA347250926
NM_015120.4:c.252C>G