ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828493126
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2120001
ClinVar RCV Id:
RCV003059164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358520.1:p.Ala417Thr
CA358171172
NM_001371591.1:c.1249G>A