ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916017470
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.1:p.Glu80Lys
CA263984
NM_001290130.1:c.238G>A