ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431189
Gene: MITF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001355463
RCV003771039
ClinVar Variation:
1049403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937801.1:p.Asp118Gly
CA2490437
NM_198158.3:c.353A>G