Allele Registry

Canonical Allele Identifier: PA213181

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000015345

ClinVar Variation:

14275

HGVS (amino-acid)	Matching Registered Transcripts
NP_000239.1:p.Asn210Lys	CA213179 NM_000248.4:c.630C>G CA353561668 NM_000248.4:c.630C>A