ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105132
Gene: ADAMTSL2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000728
ClinVar Variation:
693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138792.1:p.Pro147Leu
CA339824
NM_001145320.2:c.440C>T