Canonical Allele Identifier: PA645390848
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 306797
ClinVar RCV Id: RCV000280855 RCV000338142
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.His1102Gln
CA10636148
NM_024312.5:c.3306C>G
CA386293654
NM_024312.5:c.3306C>A