ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455395
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Glu1859Lys
CA10605207
NM_004369.4:c.5575G>A