ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246742
Gene: AIPL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198208
ClinVar RCV Id:
RCV000723621
RCV001080307
RCV000765381
RCV001124292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055151.3:p.Arg324Leu
CA246741
NM_014336.5:c.971G>T