ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356553
Gene: GNPTAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Gln205Pro
CA356552
NM_024312.5:c.614A>C
CA356556
NM_024312.5:c.[614A>C;545T>A]