ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139742207
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
899934
ClinVar RCV Id:
RCV001144829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Gly418Glu
CA10247971
NM_001363840.3:c.1253G>A