ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431740
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
346495
ClinVar RCV Id:
RCV000283175
RCV000405002
RCV000977275
RCV002257652
RCV002520179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.His215Leu
CA2490409
NM_198159.3:c.644A>T