ClinGen Allele Registry
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Canonical Allele Identifier:
PA281919
Gene: EFEMP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
47612
ClinVar RCV:
RCV000032266
RCV000033128
ClinVar Variation:
39009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058634.4:p.Ala397Thr
CA281918
NM_016938.5:c.1189G>A