ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580182592
Gene: COL5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265003.1:p.Gln1428Glu
CA375457228
NM_001278074.1:c.4282C>G