ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092002
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13197
ClinVar RCV Id:
RCV000014084
RCV000761519
RCV001291133
RCV001543486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269209.1:p.Arg119His
CA122956
NM_001282280.2:c.356G>A