ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825060812
Gene: COL5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365705
ClinVar RCV Id:
RCV000367781
RCV001865247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000084.3:p.Glu122Gly
CA10626789
NM_000093.5:c.365A>G