ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828443224
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211495
ClinVar RCV Id:
RCV000194054
RCV000662085
RCV002517099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358524.1:p.Ile218Thr
CA207954
NM_001371595.1:c.653T>C