ClinGen Allele Registry
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Canonical Allele Identifier:
PA645510978
Gene: COL5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265003.1:p.Ala436Val
CA5318705
NM_001278074.1:c.1307C>T