ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455025
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
271679
ClinVar RCV:
RCV000284694
RCV002521973
ClinVar Variation:
287442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ser647Thr
CA2189510
NM_004369.4:c.1939T>A