ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390250
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252961
ClinVar RCV Id:
RCV000239404
RCV001030804
RCV003765485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Gly173Asp
CA10586138
NM_152419.3:c.518G>A