ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573301975
Gene: POGLUT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689518.1:p.Ile129Thr
CA81697809
NM_152305.3:c.386T>C