ClinGen Allele Registry
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Canonical Allele Identifier:
PA094136
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
134268
ClinVar RCV:
RCV000180594
RCV000224823
RCV000304466
RCV001081946
RCV001358668
RCV004549581
ClinVar Variation:
128819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Glu1386Lys
CA203744
NM_004369.4:c.4156G>A