ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114784
Gene: ATG16L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1130
ClinVar RCV Id:
RCV000001189
RCV000180346
RCV003982820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_110430.5:p.Thr300Ala
CA114782
NM_030803.7:c.898A>G