ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091713
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92371
ClinVar RCV Id:
RCV000259040
RCV000796571
RCV001271730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000041.2:p.Ala202Glu
CA285301
NM_000050.4:c.605C>A