ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA122955
Gene: PYCR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_008838.2:p.Arg119Gly
NM_006907.4:c.355C>G