ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431567
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2941566
ClinVar RCV Id:
RCV003802588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937801.1:p.Ser391Cys
CA353559992
NM_198158.3:c.1172C>G