ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827730748
Gene: ABCD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37319
ClinVar RCV Id:
RCV000030859
RCV000059785
RCV002265570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340524.1:p.Tyr181Cys
CA130166
NM_001353595.2:c.542A>G