Canonical Allele Identifier: PA2580501660
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2148035
ClinVar RCV Id: RCV003068649 RCV004070452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asn630Ser
CA410538702
NM_058175.3:c.1889A>G