ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344274
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41256
ClinVar RCV Id:
RCV000034157
RCV001852693
RCV003226172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Asp1018Gly
CA344273
NM_024312.5:c.3053A>G