ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828082233
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2091388
ClinVar RCV Id:
RCV003007945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Pro422Arg
CA371119563
NM_001363227.2:c.1265C>G