ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827881617
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2579410
ClinVar RCV Id:
RCV003327845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341534.1:p.Ile318Ser
CA353561690
NM_001354605.2:c.953T>G