ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830432121
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1313653
ClinVar RCV Id:
RCV001764017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937802.1:p.Val467Ile
CA353559800
NM_198159.3:c.1399G>A