Canonical Allele Identifier: PA645433449
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286822
ClinVar RCV Id: RCV000335376 RCV000391271 RCV001082860 RCV001261892 RCV000725902 RCV004535372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg724Cys
CA10072456
NM_001849.4:c.2170C>T