ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313104
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204791
ClinVar RCV Id:
RCV000186683
RCV004020258
RCV000764387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Arg309Cys
CA313103
NM_000026.3:c.925C>T