ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580483004
Gene: GNPTG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2133511
ClinVar RCV Id:
RCV003040969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115909.1:p.Tyr81Ser
CA394186769
NM_032520.5:c.242A>C