Canonical Allele Identifier: PA645451915
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284534
ClinVar RCV Id: RCV000307161 RCV001127852 RCV001127854 RCV001711856 RCV002401987 RCV001127853 RCV000864424
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro417Ala
CA8645333
NM_000088.4:c.1249C>G