ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825518285
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68145
ClinVar RCV Id:
RCV000058976
RCV001380269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Ala214Pro
CA219046
NM_001085425.3:c.640G>C