ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658679651
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458674
ClinVar RCV Id:
RCV000529881
RCV001376549
RCV002254300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000041.2:p.Ser180Ile
CA375227223
NM_000050.4:c.539G>T