ClinGen Allele Registry
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Canonical Allele Identifier:
PA916038037
Gene: MITF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015347
RCV001541066
RCV002281708
RCV002513060
RCV003974827
ClinVar Variation:
14277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Ser405Pro
CA123838
NM_001354604.2:c.1213T>C