ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882547
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1719314
ClinVar RCV Id:
RCV002302074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341536.1:p.Ser495Asn
CA77003533
NM_001354607.2:c.1484G>A