Canonical Allele Identifier: PA2827881690
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 2943489
ClinVar RCV Id: RCV003800607
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341534.1:p.Glu393Asp
CA77003516
NM_001354605.2:c.1179A>T
CA353559308
NM_001354605.2:c.1179A>C