ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139756019
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Ile119Thr
CA10071274
NM_058175.3:c.356T>C