ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573072387
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000334238
RCV001219362
RCV001833332
ClinVar Variation:
284230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358521.1:p.Glu338Lys
CA10604727
NM_001371592.1:c.1012G>A