Canonical Allele Identifier: PA915954343
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 648171
ClinVar RCV Id: RCV000802837

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro334Ser
CA400221214
NM_000088.4:c.1000C>T