ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573264908
Gene: POFUT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056167.1:p.Thr279Met
CA9807410
NM_015352.2:c.836C>T