Canonical Allele Identifier: PA2741971651
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2587754
ClinVar RCV Id: RCV003350774
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Asp54Asn
CA9138631
NM_020533.3:c.160G>A