ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105041
Gene: ADAMTSL2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000729
RCV003162202
ClinVar Variation:
694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138792.1:p.Arg113His
CA339825
NM_001145320.2:c.338G>A