Canonical Allele Identifier: PA915967072
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 595978
ClinVar RCV Id: RCV000731671 RCV001104686 RCV002536467
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121077.1:p.Lys2Asn
CA5593843
NM_001127605.3:c.6A>T
CA377518663
NM_001127605.3:c.6A>C