ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147403
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
274758
ClinVar RCV:
RCV000340601
RCV001403783
ClinVar Variation:
290521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Ser1005Leu
CA2188810
NM_057166.5:c.3014C>T