ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA253121
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4335
ClinVar RCV Id:
RCV000004582
RCV001174737
RCV001582465
RCV001826414
RCV002490310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Asp482Asn
CA253118
NM_000157.4:c.1444G>A