ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830432830
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
995918
ClinVar RCV Id:
RCV001290151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937820.1:p.Arg288Gly
CA353561608
NM_198177.3:c.862A>G