ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827061347
Gene: COL13A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3147178
ClinVar RCV Id:
RCV004444531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307880.1:p.Leu382Ile
CA5534633
NM_001320951.2:c.1144C>A