ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826641217
Gene: PYCR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269209.1:p.Arg251Cys
CA8845328
NM_001282280.2:c.751C>T