ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830432190
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_937802.1:p.Ser512Asn
CA77003533
NM_198159.3:c.1535G>A