ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123841
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_937802.1:p.Ser399Pro
CA123838
NM_198159.3:c.1195T>C