ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830162955
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542992.3:p.Asp191Asn
CA5534282
NM_080802.4:c.571G>A