ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830338524
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000295403
RCV001559809
ClinVar Variation:
325913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_722546.1:p.Thr59Met
CA8845537
NM_153824.3:c.176C>T