ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882171
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
900478
ClinVar RCV Id:
RCV001145711
RCV001145712
RCV002557119
RCV003130165
RCV003963084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341535.1:p.Gly499Glu
CA2490692
NM_001354606.2:c.1496G>A