ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044530
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235410
ClinVar RCV Id:
RCV000224729
RCV000526230
RCV002516223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Ser448Pro
CA10247981
NM_001363840.3:c.1342T>C