ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455527
Gene: COL6A3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004360.2:p.Ser2992Thr
NM_004369.4:c.8974T>A