ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825063192
Gene: COL5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843180
ClinVar RCV Id:
RCV001509380
RCV002240305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000084.3:p.Arg1732Trp
CA5320665
NM_000093.5:c.5194C>T