ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580521702
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2106439
ClinVar RCV Id:
RCV003026474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Tyr419Cys
CA371119546
NM_152419.3:c.1256A>G