Allele Registry

Canonical Allele Identifier: PA123832

Gene: MITF HGNC NCBI

ClinVar RCV:

RCV000015343

ClinVar Variation:

14273

HGVS (amino-acid)	Matching Registered Transcripts
NP_000239.1:p.Ser250Pro	CA123830 NM_000248.4:c.748T>C