ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500714
Gene: COL5A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264358
ClinVar RCV Id:
RCV000659490
RCV002311147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000384.2:p.Ala1470Val
CA10587547
NM_000393.5:c.4409C>T