ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221378
Gene: ALG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93443
ClinVar RCV Id:
RCV000079329
RCV002305446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001004127.2:p.Ile414Asn
CA221377
NM_001004127.2:c.1241T>A