ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830433397
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_937821.2:p.Glu151Gln
CA16605010
NM_198178.3:c.451G>C