ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA234528
Gene: PEX14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167451
ClinVar RCV Id:
RCV000153678
RCV001211203
RCV003330512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004556.1:p.Ser275Leu
CA234527
NM_004565.3:c.824C>T