Canonical Allele Identifier: PA2827881810
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2937538
ClinVar RCV Id: RCV003794168

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341534.1:p.Met516Ile
CA353560072
NM_001354605.2:c.1548G>T
CA353560073
NM_001354605.2:c.1548G>C
CA353560074
NM_001354605.2:c.1548G>A