ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA219075
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68159
ClinVar RCV Id:
RCV000058991
RCV000578460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Thr306Met
CA219074
NM_000487.5:c.917C>T