ClinGen Allele Registry
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Canonical Allele Identifier:
PA645447701
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14272
ClinVar RCV Id:
RCV000015342
RCV000498643
RCV000826199
RCV001290155
RCV001785452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006713.1:p.Arg317del
CA645372387
NM_006722.2:c.949_951del