ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827881986
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2579410
ClinVar RCV Id:
RCV003327845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341535.1:p.Ile312Ser
CA353561690
NM_001354606.2:c.935T>G