Canonical Allele Identifier: PA221772
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93851
ClinVar RCV Id: RCV000079788 RCV001142888 RCV001086476
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gln768His
CA221770
NM_001848.3:c.2304G>C
CA410536333
NM_001848.3:c.2304G>T