ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091752
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365260
ClinVar RCV Id:
RCV000286574
RCV000413247
RCV000506573
RCV001376638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000041.2:p.Lys310Arg
CA5283575
NM_000050.4:c.929A>G