Allele Registry

Canonical Allele Identifier: PA658817903

Gene: COL12A1 HGNC NCBI

ClinVar RCV:

RCV000652912

RCV001592828

ClinVar Variation:

542484

HGVS (amino-acid)	Matching Registered Transcripts
NP_004361.3:p.Arg1863Cys	CA3893080 NM_004370.6:c.5587C>T