ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828492454
Gene: MFSD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1006
ClinVar RCV Id:
RCV000001061
RCV001826401
RCV001781155
RCV002371752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358519.1:p.Thr249Lys
CA339858
NM_001371590.1:c.746C>A