ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828791932
Gene: ADAMTSL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292517
ClinVar RCV Id:
RCV000388569
RCV001636849
RCV003338520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365525.1:p.Glu44Lys
CA1077880
NM_001378596.1:c.130G>A