ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830023836
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3100690
ClinVar RCV Id:
RCV004395567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Gly1049Arg
CA386294939
NM_024312.5:c.3145G>C