ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099627
Gene: PCYT1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005008.2:p.Glu129Lys
CA214468
NM_005017.4:c.385G>A