ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573194057
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1512274
ClinVar RCV Id:
RCV002017052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Asp318Gly
CA368198806
NM_001282677.2:c.953A>G