ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825140679
Gene: PEPD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2683487
ClinVar RCV Id:
RCV003480307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000276.2:p.Cys478Tyr
CA307568372
NM_000285.4:c.1433G>A