Canonical Allele Identifier: PA658827074
Gene: LIPA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Ser103Arg
CA5593764
NM_000235.4:c.309C>A
CA377517985
NM_000235.4:c.309C>G
CA377517991
NM_000235.4:c.307A>C