ClinGen Allele Registry
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Canonical Allele Identifier:
PA891851433
Gene: COL6A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Ala227Val
CA10069650
NM_001848.3:c.680C>T