ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830431343
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14273
ClinVar RCV Id:
RCV000015343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937801.1:p.Ser244Pro
CA123830
NM_198158.3:c.730T>C