ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580372646
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2090976
ClinVar RCV Id:
RCV002991500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055151.3:p.Pro335Leu
CA397394447
NM_014336.5:c.1004C>T