ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093743
Gene: EFEMP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8072
ClinVar RCV Id:
RCV000008539
RCV000726861
RCV001074275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034437.1:p.Arg345Trp
CA119276
NM_001039348.3:c.1033C>T