ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825105571
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14272
ClinVar RCV Id:
RCV000015342
RCV000498643
RCV000826199
RCV001290155
RCV001785452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000239.1:p.Arg217del
CA645372387
NM_000248.4:c.649_651del