This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000264079.5:p.[Thr239_Asn241delinsPro;Gln243Thr;Leu245_Glu249delinsArgAlaSerSer;Pro251_Tyr254delinsMetArgSerArg;Phe256_Leu259delinsAla;Thr261_Lys265delinsProSer;His267del]
CA884201447
ENST00000264079.11:c.714del