ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092024
Gene: PYCR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269209.1:p.Arg266Gln
CA122950
NM_001282280.2:c.797G>A