ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882435
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_001341536.1:p.Ala378Val
CA353559351
NM_001354607.2:c.1133C>T