ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113762
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449091
ClinVar RCV Id:
RCV000519424
RCV000856791
RCV001291131
RCV001584233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269209.1:p.Ala179Thr
CA8845416
NM_001282280.2:c.535G>A