ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743141
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943332
ClinVar RCV Id:
RCV001213504
RCV001833870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358521.1:p.Val349Ala
CA358171944
NM_001371592.1:c.1046T>C