ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829651364
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
506003
ClinVar RCV Id:
RCV000604068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006713.1:p.Ala394Val
CA353559351
NM_006722.2:c.1181C>T