ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091757
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6326
ClinVar RCV Id:
RCV000006698
RCV000185782
RCV001376618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000041.2:p.Ser180Asn
CA253831
NM_000050.4:c.539G>A