ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826943540
Gene: PCYT1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001299602.1:p.Glu280del
CA2779419
NM_001312673.2:c.838_840del