ClinGen Allele Registry
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Canonical Allele Identifier:
PA200144
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190061
ClinVar RCV:
RCV000172849
RCV000277291
RCV000374757
RCV000653630
RCV001082877
RCV002227451
RCV004552949
ClinVar Variation:
192261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg3043His
CA200142
NM_004369.4:c.9128G>A