ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829674604
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_008838.2:p.Ala299Thr
CA8845238
NM_006907.4:c.895G>A