ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827882632
Gene: MITF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003152267
ClinVar Variation:
2443660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341537.1:p.Met171Val
CA77000889
NM_001354608.2:c.511A>G