ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147270
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
215253
ClinVar RCV:
RCV000202790
RCV000539163
RCV001083049
RCV004553105
ClinVar Variation:
218630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Val729Ile
CA248984
NM_057166.5:c.2185G>A