ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830432172
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1196677
ClinVar RCV Id:
RCV001560236
RCV003771715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Val497Met
CA77003529
NM_198159.3:c.1489G>A