ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827319350
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000519424
RCV000856791
RCV001291131
RCV001584233
ClinVar Variation:
449091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317452.1:p.Ala179Thr
CA8845416
NM_001330523.2:c.535G>A