ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416049
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425121
ClinVar RCV Id:
RCV000488128
RCV001700132
RCV001081379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055151.3:p.Thr47Arg
CA8328611
NM_014336.5:c.140C>G