ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830433191
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1196677
ClinVar RCV Id:
RCV001560236
RCV003771715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937820.1:p.Val481Met
CA77003529
NM_198177.3:c.1441G>A