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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498504.1:p.[Gln756_Gln760delinsArgAsnArgPheSer;His762_Pro764delinsThr;Phe766_Ile767delinsLeuThr;Arg769del;Gly771_Arg776delinsProAla;Lys778_Lys785delinsGlySerGly]
CA2750469792
ENST00000651057.1:c.2266del