Allele Registry

Canonical Allele Identifier: PA2830433391

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000015345

RCV005053182

ClinVar Variation:

14275

3601262

HGVS (amino-acid)	Matching Registered Transcripts
NP_937821.2:p.Asn148Lys	CA213179 NM_198178.3:c.444C>G CA353561668 NM_198178.3:c.444C>A