ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830433407
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375216
ClinVar RCV Id:
RCV000416308
RCV000416288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Arg155Gly
CA16044011
NM_198178.3:c.463A>G