Allele Registry

Canonical Allele Identifier: PA1139729187

Gene: MITF HGNC NCBI

ClinVar Allele:

889619

ClinVar RCV:

RCV001145709

RCV001145710

RCV001574270

RCV002559407

ClinVar Variation:

900477

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341533.1:p.Glu466Lys	CA2490657 NM_001354604.2:c.1396G>A