Canonical Allele Identifier: PA658669080
Gene: COL1A2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000080.2:p.Gly505Ala
CA368222011
NM_000089.4:c.1514G>C