ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825105505
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_000239.1:p.Met116Val
CA77000889
NM_000248.4:c.346A>G