ClinGen Allele Registry
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Canonical Allele Identifier:
PA916016997
Gene: ADAMTSL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292544
ClinVar RCV Id:
RCV000297524
RCV000967919
RCV001281005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275537.1:p.Ser719Leu
CA1078528
NM_001288608.2:c.2156C>T