ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882052
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451477
ClinVar RCV Id:
RCV001148363
RCV001148364
RCV000523994
RCV003114651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341535.1:p.Asn378Ser
CA2490582
NM_001354606.2:c.1133A>G