ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830145534
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Ile760Phe
CA10604971
NM_057164.5:c.2278A>T