Canonical Allele Identifier: PA915967171
Gene: LIPA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121077.1:p.Ser103Arg
CA5593764
NM_001127605.3:c.309C>A
CA377517985
NM_001127605.3:c.309C>G
CA377517991
NM_001127605.3:c.307A>C