ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431858
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387380
ClinVar RCV Id:
RCV000424648
RCV003766333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Glu314Gln
CA16605010
NM_198159.3:c.940G>C