ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674178
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
472825
ClinVar RCV Id:
RCV000548233
RCV001788285
RCV002330952
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.His141Leu
CA6110671
NM_016938.5:c.422A>T