Canonical Allele Identifier: PA347336
Gene: MCOLN1 HGNC NCBI

Linked Data

JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_065394.1:p.Phe408del
NM_020533.3:c.1222_1224del

NM_020533.3:c.[1222_1224del;1227C=]

NM_020533.3:c.[1222_1224del;1227C>T]