ClinGen Allele Registry
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Canonical Allele Identifier:
PA658800985
Gene: EFEMP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034437.1:p.Tyr397His
CA347028096
NM_001039348.3:c.1189T>C