Canonical Allele Identifier: PA645390426
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 281019
ClinVar RCV Id: RCV000333955 RCV000765037 RCV001114209 RCV001110169 RCV002519075
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ile167Asn
CA6746871
NM_024312.5:c.500T>A