ClinGen Allele Registry
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Canonical Allele Identifier:
PA916072767
Gene: ALG8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000823145
RCV002487852
ClinVar Variation:
664953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_076984.2:p.Ile431Met
CA224903696
NM_024079.5:c.1293C>G