ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA219001
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79013
ClinVar RCV:
RCV000058952
RCV000667096
RCV002222376
ClinVar Variation:
68122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Cys491Gly
CA219000
NM_000487.5:c.1471T>G