ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830432132
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2944084
ClinVar RCV Id:
RCV003805834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Leu475Pro
CA353559856
NM_198159.3:c.1424T>C