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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.[Pro1637_Arg1642delinsLeuSerTrpValThrGly;Glu1644_Arg1650delinsAsnCysProTrpTrpThrAsp;Asp1652_Ala1655delinsIleValTrpLeu;Ile1657_Thr1663delinsPhePheArgIleGlnSer;Ser1665Ile;Leu1666_Gln1667insSer]
CA658822834
ENST00000684590.1:c.4910del