ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390425
Gene: GNPTAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
306817
ClinVar RCV Id:
RCV000277271
RCV000330029
RCV002520782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Asp153Asn
CA10640664
NM_024312.5:c.457G>A