ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825283283
Gene: ALG3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
344352
ClinVar RCV Id:
RCV000513893
RCV001083072
RCV003969992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001006942.1:p.Ala234Val
CA2729408
NM_001006941.2:c.701C>T