ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827881980
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2925353
ClinVar RCV Id:
RCV003781007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341535.1:p.Lys306Gln
CA353561631
NM_001354606.2:c.916A>C