ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150747
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
272741
ClinVar RCV:
RCV000707162
RCV000726172
ClinVar Variation:
288504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala2709Val
CA2187451
NM_057167.4:c.8126C>T