ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669836
Gene: EPG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466241
ClinVar RCV Id:
RCV000548885
RCV001706669
RCV003935457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066015.2:p.Ala72Thr
CA8949996
NM_020964.3:c.214G>A