ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147111
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195953
ClinVar RCV:
RCV000180244
RCV000653624
RCV001143453
RCV001697128
RCV002516813
RCV004553022
ClinVar Variation:
198793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Arg542Gln
CA247626
NM_057166.5:c.1625G>A