ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828492593
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1432417
ClinVar RCV Id:
RCV001941251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358519.1:p.Leu375Phe
CA358171150
NM_001371590.1:c.1123C>T