ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044451
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195007
ClinVar RCV Id:
RCV000527728
RCV000723817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Arg83Cys
CA241261
NM_001363840.3:c.247C>T