ClinGen Allele Registry
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Canonical Allele Identifier:
PA916038034
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000523994
RCV001148363
RCV001148364
RCV003114651
ClinVar Variation:
451477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341533.1:p.Asn385Ser
CA2490582
NM_001354604.2:c.1154A>G