ClinGen Allele Registry
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Canonical Allele Identifier:
PA916057506
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
346495
ClinVar RCV Id:
RCV000283175
RCV000405002
RCV000977275
RCV002257652
RCV002520179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.His52Leu
CA2490409
NM_198178.3:c.155A>T