ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012849
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13191
ClinVar RCV Id:
RCV000014079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269210.1:p.Gly233Trp
CA122952
NM_001282281.2:c.697G>T