ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150883
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1497432
ClinVar RCV:
RCV001974732
ClinVar Variation:
1436317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Pro2876Leu
CA2187317
NM_057167.4:c.8627C>T