Canonical Allele Identifier: PA2741916107
Gene: COL8A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2554794
ClinVar RCV Id: RCV003277670

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005193.1:p.Pro429Gln
CA339395668
NM_005202.4:c.1286C>A