ClinGen Allele Registry
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Canonical Allele Identifier:
PA658818478
Gene: COL5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523328
ClinVar RCV Id:
RCV000626600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265003.1:p.Gly203Val
CA375443454
NM_001278074.1:c.608G>T