Allele Registry

Canonical Allele Identifier: PA247141

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV000179833

RCV001102150

RCV001102151

RCV003488432

RCV004539687

ClinVar Variation:

198474

HGVS (amino-acid)	Matching Registered Transcripts
NP_542196.2:p.Pro334Leu	CA247139 NM_080629.3:c.1001C>T