ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882439
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14277
ClinVar RCV Id:
RCV000015347
RCV001541066
RCV002513060
RCV003974827
RCV002281708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341536.1:p.Ser382Pro
CA123838
NM_001354607.2:c.1144T>C