ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044538
Gene: ADSL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000442330
ClinVar Variation:
383946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Tyr472His
CA16608676
NM_001363840.3:c.1414T>C