ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068895939
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Ser128Leu
CA353561097
NM_000248.4:c.383C>T