ClinGen Allele Registry
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Canonical Allele Identifier:
PA915972511
Gene: COL6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Thr438Met
CA10070232
NM_001848.3:c.1313C>T