ClinGen Allele Registry
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Canonical Allele Identifier:
PA116556
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060209.3:p.Trp475Ter
NM_017739.3:c.1424G>A
NM_017739.3:c.1425G>A