Canonical Allele Identifier: PA343334
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39020
ClinVar RCV Id: RCV000032285 RCV000250304 RCV000344025 RCV000437039 RCV001079378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ile348Leu
CA343333
NM_024312.5:c.1042A>C