ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139713208
Gene: COL6A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Val951Ile
CA10073054
NM_001849.4:c.2851G>A