ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827173
Gene: MITF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Val251Met
CA353561962
NM_000248.4:c.751G>A