ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825740234
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_001123575.1:p.Leu392Ile
CA5534633
NM_001130103.2:c.1174C>A