ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325357
Gene: COL5A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001925920
RCV002224115
ClinVar Variation:
1413406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000384.2:p.Gly654Ser
CA325356
NM_000393.5:c.1960G>A