ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830433064
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2662014
ClinVar RCV Id:
RCV003443509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937820.1:p.Ala379Thr
CA77003517
NM_198177.3:c.1135G>A