ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091718
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6325
ClinVar RCV Id:
RCV000006697
RCV000259104
RCV001376613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000041.2:p.Arg157His
CA253830
NM_000050.4:c.470G>A