ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA122951
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13190
ClinVar RCV Id:
RCV000014078
RCV000489299
RCV000779237
RCV000624605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008838.2:p.Arg266Gln
CA122950
NM_006907.4:c.797G>A