ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830433532
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_937821.2:p.Asn216Ser
CA2490582
NM_198178.3:c.647A>G