Canonical Allele Identifier: PA2830433161
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1994951
ClinVar RCV Id: RCV002791516

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_937820.1:p.Lys458Asn
CA353559850
NM_198177.3:c.1374A>C
CA353559851
NM_198177.3:c.1374A>T