ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830433713
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452346
ClinVar RCV Id:
RCV000522973
RCV002528269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Arg344Gln
CA77003531
NM_198178.3:c.1031G>A