Allele Registry

Canonical Allele Identifier: PA324251

Gene: COL5A1 HGNC NCBI

ClinVar Allele:

210060

ClinVar RCV:

RCV000199703

RCV003593931

ClinVar Variation:

212953

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Gly997Ser	CA324249 NM_001278074.1:c.2989G>A