ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580517860
Gene: PXYLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689495.1:p.Ala197Thr
CA2644364
NM_152282.5:c.589G>A