ClinGen Allele Registry
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Canonical Allele Identifier:
PA203358
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198301
ClinVar RCV Id:
RCV000179579
RCV000306668
RCV000364746
RCV000897631
RCV004020151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Ile1502Val
CA203356
NM_080629.3:c.4504A>G