ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645431127
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204792
ClinVar RCV Id:
RCV000186684
RCV000278336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116850.1:p.Pro318Leu
CA313105
NM_001123378.3:c.953C>T