ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830432100
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721237
ClinVar RCV Id:
RCV002294918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Thr457Ile
CA353559741
NM_198159.3:c.1370C>T