ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580198843
Gene: ADAMTSL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2053952
ClinVar RCV Id:
RCV002919206
RCV002919207
RCV003340562
RCV003340561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275537.1:p.Ala689Val
CA1078481
NM_001288608.2:c.2066C>T