ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827881760
Gene: MITF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
889619
ClinVar RCV:
RCV001145709
RCV001145710
RCV001574270
RCV002559407
ClinVar Variation:
900477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341534.1:p.Glu465Lys
CA2490657
NM_001354605.2:c.1393G>A