ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123832
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_000239.1:p.Ser250Pro
CA123830
NM_000248.4:c.748T>C