ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825063187
Gene: COL5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393746
ClinVar RCV Id:
RCV001927222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000084.3:p.Val1725Met
CA201113762
NM_000093.5:c.5173G>A