ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150761
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
489539
ClinVar RCV:
RCV000592270
RCV001325100
ClinVar Variation:
498115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Pro2726Ser
CA67830560
NM_057167.4:c.8176C>T