ClinGen Allele Registry
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Canonical Allele Identifier:
PA116565
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001230695.1:p.Cys490Tyr
NM_001243766.1:c.1469G>A