ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882696
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432664
ClinVar RCV Id:
RCV000498171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341537.1:p.His258Arg
CA353561659
NM_001354608.2:c.773A>G