ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053515
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542954
ClinVar RCV Id:
RCV000653502
RCV000730640
RCV001139020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Asn904Ser
CA2189041
NM_057164.5:c.2711A>G