ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580372292
Gene: PDSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1937637
ClinVar RCV Id:
RCV002653365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055132.2:p.Ala42Thr
CA376489020
NM_014317.5:c.124G>A