Canonical Allele Identifier: PA2573060426
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306141
ClinVar RCV Id: RCV001767094

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ala1400Asp
CA400191629
NM_000088.4:c.4199C>A