ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204928
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208815
ClinVar RCV Id:
RCV000190843
RCV000675051
RCV001003048
RCV001049013
RCV001075594
RCV002272169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Arg124Trp
CA204927
NM_152419.3:c.370A>T