ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828441112
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_001358522.1:p.Ile274Thr
CA207954
NM_001371593.1:c.821T>C