Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA246967

Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198360

ClinVar RCV Id: RCV000179660 RCV000271060 RCV000357636 RCV000680455 RCV001262338 RCV004539684

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001845.3:p.Arg1733His	CA246966 NM_001854.4:c.5198G>A