ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827882529
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1722868
ClinVar RCV Id:
RCV002305975
RCV003098033
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341536.1:p.Pro475Leu
CA353559958
NM_001354607.2:c.1424C>T