ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829348636
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
275689
ClinVar RCV:
RCV000279813
RCV000338595
RCV001660559
ClinVar Variation:
291499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Pro1532Ala
CA973471
NM_001854.4:c.4594C>G