ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915958083
Gene: EFEMP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283832
ClinVar RCV Id:
RCV000291317
RCV000293250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034438.1:p.Asp49Ala
CA1668987
NM_001039349.3:c.146A>C