Canonical Allele Identifier: PA2827882809
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 1975262
ClinVar RCV Id: RCV002755585
ClinVar Variation Id: 2580780
ClinVar RCV Id: RCV003329975 RCV003777382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341537.1:p.Asn372Lys
CA353559531
NM_001354608.2:c.1116C>A
CA353559532
NM_001354608.2:c.1116C>G