ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669859
Gene: EPG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466249
ClinVar RCV Id:
RCV000539107
RCV001572756
RCV003960327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066015.2:p.Arg1322His
CA8949023
NM_020964.3:c.3965G>A