ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826080714
Gene: MCFD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2593430
ClinVar RCV Id:
RCV004335408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164982.1:p.Gln127Lys
CA46624709
NM_001171511.3:c.379C>A