ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829348178
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000315491
ClinVar Variation:
283579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Gly1333_Gly1336del
CA10604533
NM_001854.4:c.3998_4009del