ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830150742
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166936
ClinVar RCV Id:
RCV000153088
RCV000347216
RCV000560301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Pro2706Leu
CA179921
NM_057167.4:c.8117C>T