Canonical Allele Identifier: PA221755
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93818
ClinVar RCV Id: RCV000079755 RCV001197518 RCV003631088
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro502Leu
CA221753
NM_001848.3:c.1505C>T