ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580187818
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2178967
ClinVar RCV Id:
RCV002614992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269210.1:p.Ala326Thr
CA8845238
NM_001282281.2:c.976G>A