ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645497337
Gene: ALG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382799
ClinVar RCV Id:
RCV000428835
RCV000538249
RCV003480628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149078.1:p.Pro56Leu
CA5156463
NM_033087.4:c.167C>T