Canonical Allele Identifier: PA245201
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 197202
ClinVar RCV Id: RCV000178169 RCV000805017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly244Arg
CA245199
NM_001849.4:c.730G>A
CA410523293
NM_001849.4:c.730G>C