ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825520200
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3092
ClinVar RCV Id:
RCV000003238
RCV001376978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Thr324Ile
CA116009
NM_001085428.3:c.971C>T