ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826151560
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716465
ClinVar RCV Id:
RCV002303514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171896.1:p.Pro440Ala
CA353559954
NM_001184967.2:c.1318C>G