ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741907864
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2688848
ClinVar RCV Id:
RCV003490621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Asn2860Ser
CA67830779
NM_004369.4:c.8579A>G