ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828492247
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206143
ClinVar RCV Id:
RCV001086515
RCV000725884
RCV002317122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358519.1:p.Pro24Leu
CA315948
NM_001371590.1:c.71C>T