ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810622
Gene: COL6A1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001839.2:p.Glu649Lys
NM_001848.3:c.1945G>A