ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672257
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476499
ClinVar RCV Id:
RCV000541712
RCV003144370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ser354Asn
CA351222204
NM_004369.4:c.1061G>A