ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916017446
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.1:p.Arg85Ser
CA295425
NM_001290129.1:c.253C>A