ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099592
Gene: PCYT1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000087316
ClinVar Variation:
101059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005008.2:p.Ala99Thr
CA214463
NM_005017.4:c.295G>A