ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012843
Gene: PYCR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014084
RCV000761519
RCV001291133
RCV001543486
ClinVar Variation:
13197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269210.1:p.Arg146His
CA122956
NM_001282281.2:c.437G>A