ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825105713
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947768
ClinVar RCV Id:
RCV003804398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Ile377Thr
CA353559875
NM_000248.4:c.1130T>C