Allele Registry

Canonical Allele Identifier: PA347338

Gene: MCOLN1 HGNC NCBI

ClinVar Allele:

204299

ClinVar RCV:

RCV000192302

ClinVar Variation:

208023

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.Asn469Ser	CA347337 NM_020533.3:c.1406A>G