Canonical Allele Identifier: PA916054408
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 194621
ClinVar RCV Id: RCV000232259 RCV000300525 RCV000391113 RCV000544905 RCV000766827 RCV001267221 RCV003483560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp446Asn
CA240700
NM_058175.3:c.1336G>A