Canonical Allele Identifier: PA2830433723
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2947582
ClinVar RCV Id: RCV003804212

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_937821.2:p.Ser346Arg
CA77003532
NM_198178.3:c.1038C>G
CA353560052
NM_198178.3:c.1036A>C
CA353560058
NM_198178.3:c.1038C>A