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