Canonical Allele Identifier: PA2825096917
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1779893
ClinVar RCV Id: RCV002404002

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Met35Ile
CA5593826
NM_000235.4:c.105G>A
CA377518455
NM_000235.4:c.105G>T
CA377518456
NM_000235.4:c.105G>C