ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828442458
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2415035
ClinVar RCV Id:
RCV003110454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358523.1:p.Gln316Arg
CA358171653
NM_001371594.1:c.947A>G