ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826151359
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305042
ClinVar RCV Id:
RCV001765217
RCV002540238
RCV003339730
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171896.1:p.Leu223Ile
CA77001741
NM_001184967.2:c.667C>A