Allele Registry

Canonical Allele Identifier: PA2827881614

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000015345

ClinVar Variation:

14275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341534.1:p.Asn316Lys	CA213179 NM_001354605.2:c.948C>G CA353561668 NM_001354605.2:c.948C>A