ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826693993
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65709
ClinVar RCV Id:
RCV000055939
RCV000086228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272329.1:p.Ala175Pro
CA227886
NM_001285400.3:c.523G>C