ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882857
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2944084
ClinVar RCV Id:
RCV003805834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341537.1:p.Leu423Pro
CA353559856
NM_001354608.2:c.1268T>C