Canonical Allele Identifier: PA645451884
Gene: COL1A1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly326Asp
CA291547133
NM_000088.4:c.977G>A