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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507862.1:p.[Pro3488_Arg3493delinsLeuSerTrpValThrGly;Glu3495_Arg3501delinsAsnCysProTrpTrpThrAsp;Asp3503_Ala3506delinsIleValTrpLeu;Ile3508_Thr3514delinsPhePheArgIleGlnSer;Ser3516Ile;Leu3517_Gln3518insSer]
CA658822834
ENST00000682801.1:c.10463del