Allele Registry

Canonical Allele Identifier: PA2830431267

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000015345

ClinVar Variation:

14275

HGVS (amino-acid)	Matching Registered Transcripts
NP_937801.1:p.Asn204Lys	CA213179 NM_198158.3:c.612C>G CA353561668 NM_198158.3:c.612C>A