ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475143
Gene: EFEMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305379
ClinVar RCV Id:
RCV000788132
RCV001088860
RCV002446555
RCV003485576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Thr312Ala
CA6110481
NM_016938.5:c.934A>G