ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573297983
Gene: ALG2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149078.1:p.Arg251Leu
CA374227940
NM_033087.4:c.752G>T