ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828065167
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431088
ClinVar RCV Id:
RCV000496179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Tyr139Cys
CA10324950
NM_001362782.2:c.416A>G