ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573168676
Gene: COL5A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000384.2:p.Thr1449Asn
CA2021816
NM_000393.5:c.4346C>A