ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573069547
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Ser90Phe
CA833641
NM_001290130.2:c.269C>T