Canonical Allele Identifier: PA2573284936
Gene: ALG12 HGNC NCBI
ClinVar RCV:
RCV001967494
ClinVar Variation:
1430387
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077010.1:p.Pro487Leu
CA10300208
NM_024105.4:c.1460C>T