ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071390
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1319604
ClinVar RCV Id:
RCV003237600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Thr496Ala
CA353559941
NM_001354604.2:c.1486A>G