ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827881375
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373914
ClinVar RCV Id:
RCV000415280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Tyr265Cys
CA16043400
NM_001354604.2:c.794A>G