ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057546494
Gene: MITF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005212337
ClinVar Variation:
3755692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Asp62Tyr
CA353561029
NM_198178.3:c.184G>T