ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057546493
Gene: MITF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005218073
ClinVar Variation:
3756848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Met60Arg
CA353561016
NM_198178.3:c.179T>G