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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000482968.1:p.[Pro3615_Arg3620delinsLeuSerTrpValThrGly;Glu3622_Arg3628delinsAsnCysProTrpTrpThrAsp;Asp3630_Ala3633delinsIleValTrpLeu;Ile3635_Thr3641delinsPhePheArgIleGlnSer;Ser3643Ile;Leu3644_Gln3645insSer]
CA658822834
ENST00000613296.6:c.10844del