ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827319214
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325913
ClinVar RCV Id:
RCV000295403
RCV001559809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317452.1:p.Thr59Met
CA8845537
NM_001330523.2:c.176C>T