ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055773
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.3:p.Ser423Phe
CA340176415
NM_017739.3:c.1268C>T