ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826694193
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166665
ClinVar RCV Id:
RCV000152763
RCV000723947
RCV001085552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272329.1:p.Ala314Thr
CA233457
NM_001285400.3:c.940G>A