ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826641072
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1176367
ClinVar RCV Id:
RCV001531874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269208.1:p.Arg280Ser
CA8845230
NM_001282279.2:c.838C>A