ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150829
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
100914
ClinVar RCV:
RCV000081019
RCV000261014
RCV001516615
RCV001664375
RCV001664376
ClinVar Variation:
95014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala2806Pro
CA148086
NM_057167.4:c.8416G>C