ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339806
Gene: PEPD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218
ClinVar RCV Id:
RCV000000242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000276.2:p.Ser202Phe
CA339805
NM_000285.4:c.605C>T