ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139692116
Gene: PYCR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269210.1:p.Val197Ile
CA8845427
NM_001282281.2:c.589G>A