ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830431983
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947777
ClinVar RCV Id:
RCV003804407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Gln392Glu
CA353559333
NM_198159.3:c.1174C>G