Canonical Allele Identifier: PA1139762399
Gene: ALG8 HGNC NCBI
ClinVar RCV:
RCV001208916
ClinVar Variation:
939502
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_076984.2:p.Val477Leu
CA6203124
NM_024079.5:c.1429G>C
CA382109727
NM_024079.5:c.1429G>T