ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091724
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265044
ClinVar RCV Id:
RCV000255358
RCV000558661
RCV001376643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000041.2:p.Arg307Cys
CA5283572
NM_000050.4:c.919C>T