ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645402147
Gene: GNPAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055051.1:p.Arg344Gln
CA1451943
NM_014236.4:c.1031G>A