ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825105684
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1692270
ClinVar RCV Id:
RCV002255873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Thr347Ile
CA353559686
NM_000248.4:c.1040C>T