ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741916107
Gene: COL8A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2554794
ClinVar RCV Id:
RCV003277670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005193.1:p.Pro429Gln
CA339395668
NM_005202.4:c.1286C>A