Allele Registry

Canonical Allele Identifier: PA324250

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000199703

RCV003593931

ClinVar Variation:

212953

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Gly997Ser	CA324249 NM_000093.5:c.2989G>A