Canonical Allele Identifier: PA2573286191
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1679892
ClinVar RCV Id: RCV002227908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ser378Arg
CA386302846
NM_024312.5:c.1134C>G
CA386302848
NM_024312.5:c.1134C>A
CA386302857
NM_024312.5:c.1132A>C