Canonical Allele Identifier: PA257868
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17312
ClinVar RCV Id: RCV000018853 RCV000029586 RCV000480634 RCV000490676 RCV000692051 RCV000763413 RCV004549377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly332Arg
CA257866
NM_000088.4:c.994G>A
CA400221256
NM_000088.4:c.994G>C