Canonical Allele Identifier: PA257877
Gene: COL1A1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly263Arg
CA257875
NM_000088.4:c.787G>A
CA400223780
NM_000088.4:c.787G>C