Canonical Allele Identifier: PA2825105571
Gene: MITF HGNC NCBI

Linked Data

ClinVar Variation Id: 14272
ClinVar RCV Id: RCV000015342 RCV000498643 RCV000826199 RCV001290155 RCV001785452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000239.1:p.Arg217del
CA123834
NM_000248.4:c.640C>T
CA353561704
NM_000248.4:c.643A>T
CA353561711
NM_000248.4:c.646A>T
CA353561717
NM_000248.4:c.649A>T
CA645372387
NM_000248.4:c.649_651del