ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044474
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2466
ClinVar RCV Id:
RCV000002570
RCV002280090
RCV003398421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Lys246Glu
CA115569
NM_001363840.3:c.736A>G