ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091739
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430139
ClinVar RCV Id:
RCV000493705
RCV000672066
RCV001290024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000041.2:p.Glu283Lys
CA5283562
NM_000050.4:c.847G>A