ClinGen Allele Registry
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Canonical Allele Identifier:
PA108902
Gene: MCFD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001164977.1:p.Asp129Glu
NM_001171506.2:c.387C>A
NM_001171506.2:c.387C>G