Canonical Allele Identifier: PA916054351
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 194041
ClinVar RCV Id: RCV000174304 RCV000300853 RCV000353406 RCV000762045 RCV001086194 RCV004539608
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Pro357Arg
CA239826
NM_058175.3:c.1070C>G