ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458994
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.3:p.Ser233Phe
CA833641
NM_017739.3:c.698C>T