ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741867441
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2949960
ClinVar RCV Id:
RCV003807318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.His438Arg
CA353559587
NM_001354604.2:c.1313A>G