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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507376.1:p.[Arg1680_Lys1683delinsHisAsnSerArg;Trp1685Ile;Gly1687Phe;Gln1689_Asn1693del;Leu1695_Lys1699del;Phe1701_Lys1702del;Leu1704_Thr1711del;Glu1713del;Lys1716_Ser1717delinsAla]
CA2750467830
ENST00000684590.1:c.5039_5063del