ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825590144
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_001116850.1:p.Tyr413His
CA16608676
NM_001123378.3:c.1237T>C