ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830306543
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
910490
ClinVar RCV Id:
RCV001162305
RCV001859048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Ile613Val
CA371121577
NM_152419.3:c.1837A>G