ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA223056
Gene: ALG6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95527
ClinVar RCV Id:
RCV000081555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037471.2:p.His43Asn
CA223055
NM_013339.4:c.127C>A