Canonical Allele Identifier: PA2826903462
Gene: ALG14 HGNC NCBI
ClinVar RCV:
RCV001352191
ClinVar Variation:
1047475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001292171.1:p.Ser64Leu
CA27228974
NM_001305242.2:c.191C>T