ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825369016
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100585
ClinVar RCV Id:
RCV000086968
RCV001085684
RCV001699038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001028226.1:p.Ala250Ser
CA228922
NM_001033054.3:c.748G>T