ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431849
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Leu312Pro
CA353561671
NM_198159.3:c.935T>C