ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827882543
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2097262
ClinVar RCV Id:
RCV003016603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341536.1:p.Arg491Lys
CA353560047
NM_001354607.2:c.1472G>A