ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139676394
Gene: EFEMP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034438.1:p.Arg134Gln
CA1668950
NM_001039349.3:c.401G>A