ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139754568
Gene: ASS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_446464.1:p.Arg363Gly
CA375232218
NM_054012.4:c.1087C>G