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Canonical Allele Identifier: Get Identifier
Gene: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000264079.5:p.[Pro202_Pro203delinsLeuArg;Ser206_Val231delinsAlaThrIleSerProSerTrpLysAlaAlaProValThrArgThrSerArgSerAsnSerThrSerTrpSerMetSer]
CA2576596978
ENST00000264079.11:c.605del