Canonical Allele Identifier: PA2829936381
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2915887
ClinVar RCV Id: RCV003615464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.[Val78_Gln79insHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAsp;Gln79_Leu80insGluValIleIleSer]
CA631462565
NM_020533.3:c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATT...