Canonical Allele Identifier: PA2741889071
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2815469
ClinVar RCV Id: RCV003631697
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val333Leu
CA410522744
NM_001848.3:c.997G>T
CA410522746
NM_001848.3:c.997G>C