ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828088818
Gene: MFSD8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350450.1:p.Val216Ile
CA3077331
NM_001363521.2:c.646G>A