Canonical Allele Identifier: PA095010
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4317
ClinVar RCV Id: RCV000004561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Trp351Cys
CA253092
NM_000157.4:c.1053G>T
CA342717576
NM_000157.4:c.1053G>C