ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645419197
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6328
ClinVar RCV Id:
RCV000006700
RCV000185787
RCV001376637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_446464.1:p.Arg363Trp
CA253833
NM_054012.4:c.1087C>T