Allele Registry

Canonical Allele Identifier: PA2829348158

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV000247078

RCV000270271

RCV000328768

RCV001510953

RCV001582848

RCV001706332

ClinVar Variation:

258461

HGVS (amino-acid)	Matching Registered Transcripts
NP_001845.3:p.Pro1323Leu	CA973754 NM_001854.4:c.3968C>T