Canonical Allele Identifier: PA658663309
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476468
ClinVar RCV Id: RCV000548374 RCV003258877
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp803Asn
CA10072551
NM_001849.4:c.2407G>A