ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826694194
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2085478
ClinVar RCV Id:
RCV002996293
RCV003418703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272329.1:p.Pro320Ser
CA8328328
NM_001285400.3:c.958C>T